Canonical Allele Identifier: CA403668504

Gene: INSR

Linked Data

• dbSNP Id: rs1972355700
• gnomAD v3: 19-7117202-A-T
• gnomAD v4: 19-7117202-A-T
• MyVariant Identifiers: chr19:g.7117213A>T (hg19) ; chr19:g.7117202A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117202A>T , CM000681.2:g.7117202A>T	GRCh38
NC_000019.9:g.7117213A>T , CM000681.1:g.7117213A>T	GRCh37
NC_000019.8:g.7068213A>T	NCBI36
NG_008852.2:g.181799T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.4003T>A MANE Select	ENSP00000303830.4:p.Cys1335Ser
ENST00000302850.9:c.4003T>A	ENSP00000303830.4:p.Cys1335Ser
ENST00000341500.9:c.3967T>A	ENSP00000342838.4:p.Cys1323Ser
NM_000208.2:c.4003T>A	NP_000199.2:p.Cys1335Ser
NM_000208.3:c.4003T>A	NP_000199.2:p.Cys1335Ser
NM_001079817.1:c.3967T>A	NP_001073285.1:p.Cys1323Ser
NM_001079817.2:c.3967T>A	NP_001073285.1:p.Cys1323Ser
XM_011527988.1:c.4078T>A	XP_011526290.1:p.Cys1360Ser
XM_011527989.1:c.4042T>A	XP_011526291.1:p.Cys1348Ser
XM_011527988.2:c.4000T>A	XP_011526290.2:p.Cys1334Ser
XM_011527989.3:c.3964T>A	XP_011526291.2:p.Cys1322Ser
NM_000208.4:c.4003T>A MANE Select	NP_000199.2:p.Cys1335Ser
NM_001079817.3:c.3967T>A	NP_001073285.1:p.Cys1323Ser